New recessive truncating mutation inLTBP3in a family with oligodontia, short stature, and mitral valve prolapse-Reference-Cited by-同舟云学术

New recessive truncating mutation inLTBP3in a family with oligodontia, short stature, and mitral valve prolapse

Published:2015-04-21 Issue:6 Volume:167 Page:1396-1399
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dugan Sarah L.¹,Temme Renee T.¹,Olson Rebecca A.¹,Mikhailov Anna²,Law Rosalind²,Mahmood Huda²,Noor Abdul³,Vincent John B.²⁴⁵

Affiliation:

1. Department of Medical Genetics; Children's Hospitals and Clinics of Minnesota; Minneapolis Minnesota

2. Molecular Neuropsychiatry and Development (MiND) Lab; Centre for Addiction and Mental Health; Campbell Family Mental Health Research Institute; Toronto Ontario Canada

3. Department of Pathology and Laboratory Medicine; Mount Sinai Hospital; Toronto Ontario Canada

4. Institute of Medical Science; University of Toronto; Toronto Ontario Canada

5. Department of Psychiatry; University of Toronto; Toronto Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37049/fullpdf

Reference12 articles.

1. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1;Ahmad;Am J Hum Genet,1998

2. Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability;Dabovic;J Cell Biol,2002

3. Osteopetrosis-like phenotype in latent TGF-beta binding protein 3 deficient mice;Dabovic;Bone,2005

4. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix;Haji-Seyed-Javadi;Hum Mutat,2012

5. The novel gene locus for agenesis of permanent teeth (He-Zhao deficiency) maps to chromosome 10q11.2. J;Liu;Dent Res,2001

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